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168 results

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Page 1
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H. Windheuser IC, et al. Among authors: mangold e. Am J Med Genet A. 2020 May;182(5):1021-1031. doi: 10.1002/ajmg.a.61515. Epub 2020 Feb 17. Am J Med Genet A. 2020. PMID: 32065501
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance.
Birnbaum S, Reutter H, Lauster C, Scheer M, Schmidt G, Saffar M, Martini M, Hemprich A, Henschke H, Kramer FJ, Mangold E. Birnbaum S, et al. Among authors: mangold e. Am J Med Genet A. 2008 Mar 15;146A(6):787-90. doi: 10.1002/ajmg.a.32219. Am J Med Genet A. 2008. PMID: 18247422 No abstract available.
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Bergé SJ, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Steegers-Theunissen RP, Pötzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nöthen MM, Mangold E. Birnbaum S, et al. Among authors: mangold e. Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270707
Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients.
Nikopensius T, Ambrozaityte L, Ludwig KU, Birnbaum S, Jagomägi T, Saag M, Matuleviciene A, Linkeviciene L, Herms S, Knapp M, Hoffmann P, Nöthen MM, Kucinskas V, Metspalu A, Mangold E. Nikopensius T, et al. Among authors: mangold e. Am J Med Genet A. 2009 Nov;149A(11):2551-3. doi: 10.1002/ajmg.a.33024. Am J Med Genet A. 2009. PMID: 19839039 No abstract available.
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Chawa TA, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann HE, Steegers-Theunissen RP, Kramer FJ, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nöthen MM. Mangold E, et al. Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023658
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
Birnbaum S, Ludwig KU, Reutter H, Herms S, de Assis NA, Diaz-Lacava A, Barth S, Lauster C, Schmidt G, Scheer M, Saffar M, Martini M, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Pötzsch B, Wienker TF, Hoffmann P, Knapp M, Kramer FJ, Nöthen MM, Mangold E. Birnbaum S, et al. Among authors: mangold e. Eur J Oral Sci. 2009 Dec;117(6):766-9. doi: 10.1111/j.1600-0722.2009.00680.x. Eur J Oral Sci. 2009. PMID: 20121942
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Unger S, et al. Among authors: mangold e. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641. Am J Med Genet A. 2010. PMID: 20830804
SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients.
de Assis NA, Nowak S, Ludwig KU, Reutter H, Vollmer J, Heilmann S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Knapp M, Wienker TF, Kramer FJ, Hoffmann P, Nöthen MM, Mangold E. de Assis NA, et al. Among authors: mangold e. Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):49-52. doi: 10.1016/j.ijporl.2010.10.005. Epub 2010 Nov 1. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21044801
Breakthroughs in the genetics of orofacial clefting.
Mangold E, Ludwig KU, Nöthen MM. Mangold E, et al. Trends Mol Med. 2011 Dec;17(12):725-33. doi: 10.1016/j.molmed.2011.07.007. Epub 2011 Aug 30. Trends Mol Med. 2011. PMID: 21885341 Review.
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, Paul A, Becker J, Herberz R, AlChawa T, Nasser E, Böhmer AC, Mattheisen M, Alblas MA, Barth S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Daratsianos N, Kreusch T, Murray JC, Marazita ML, Ruczinski I, Scott AF, Beaty TH, Kramer FJ, Wienker TF, Steegers-Theunissen RP, Rubini M, Mossey PA, Hoffmann P, Lange C, Cichon S, Propping P, Knapp M, Nöthen MM. Ludwig KU, et al. Among authors: mangold e. Nat Genet. 2012 Sep;44(9):968-71. doi: 10.1038/ng.2360. Epub 2012 Aug 5. Nat Genet. 2012. PMID: 22863734 Free PMC article.
168 results